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Article

Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration.

Investigative ophthalmology & visual science - 1 Nov 2009

Schmid-Kubista Katharina E, Tosakulwong Nirubol, Wu Yanhong, Ryu Euijung, Hecker Laura A, Baratz Keith H, Brown William L, Edwards Albert O

Abstract excerpt

PURPOSE: To develop an assay for determining the number of copies of the genes encoding complement factor H related 3 (CFHR3) and 1 (CFHR1) and determine the contribution of copy number variation (CNV) at CFHR3 and CFHR1 to the development of age-related macular degeneration (AMD). METHODS: A multiplex ligation-dependent probe amplification (MLPA) assay was developed to quantify the number of copies of CFHR3 and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19553609
DOI: 10.1167/iovs.09-3975

Genes

CFHR1
CFHR3
CFH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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